A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map

D Markie, S Huson, E Maher, A Davies, I Tomlinson, W F Bodmer

Research output: Contribution to journalArticlepeer-review

Abstract

Karyotypic analysis in a patient with Peutz-Jeghers' syndrome demonstrated a pericentric inversion on chromosome 6. Further investigation was undertaken using fluorescence in situ hybridisation (FISH) with yeast artificial chromosome clones selected to contain genetic markers from chromosome 6, and a probe for the centromeric alphoid repeat array. This analysis located one inversion breakpoint within the alphoid array, in a 1-cM interval between D6S257 and D6S402, and the other in a 4-cM interval between D6S403 and D6S311. The oestrogen receptor gene locus (ESR) is excluded from the latter interval.

Original languageEnglish
Pages (from-to)125-8
Number of pages4
JournalHuman Genetics
Volume98
Issue number2
DOIs
Publication statusPublished - Aug 1996

Keywords

  • Adult
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast/genetics
  • Chromosomes, Human, Pair 6/genetics
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Probes
  • Peutz-Jeghers Syndrome/genetics

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